R34C (p.Arg34Cys) variant of TGM1 (P22735)
R34C (p.Arg34Cys) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R34C (p.Arg34Cys) variant details
- p.Arg34Cys
- rs149148326
- ClinGen CA7131546
- ClinVar RCV001277605
- ClinVar RCV002537754
- Conflicting interpretations
- not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.39
- CADD 22.90
- PolyPhen-2 0.68
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Autosomal recessive congenital ichthyosis 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)